Canonical Allele Identifier: CA412334888

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15321762C>T , CM000685.2:g.15321762C>T	GRCh38
NC_000023.10:g.15339884C>T , CM000685.1:g.15339884C>T	GRCh37
NC_000023.9:g.15249805C>T	NCBI36
NG_009786.1:g.18777G>A , LRG_160:g.18777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.1199G>A MANE Select	ENSP00000369820.3:p.Arg400Gln
ENST00000637296.1:c.254G>A	ENSP00000490545.1:p.Arg85Gln
ENST00000637626.1:c.*680G>A	ENSP00000489928.1:n.*680G>A
ENST00000638131.1:c.*460G>A	ENSP00000490483.1:n.*460G>A
ENST00000333590.5:c.1199G>A	ENSP00000369820.3:p.Arg400Gln
ENST00000463173.1:n.471G>A
ENST00000475746.1:c.92G>A	ENSP00000488970.1:p.Arg31Gln
ENST00000482148.6:c.692G>A	ENSP00000489528.1:p.Arg231Gln
ENST00000542278.6:c.1199G>A	ENSP00000442653.2:p.Arg400Gln
ENST00000634582.1:c.497G>A	ENSP00000489540.1:p.Arg166Gln
ENST00000634640.1:c.254G>A	ENSP00000489083.1:p.Arg85Gln
ENST00000635045.1:n.1432G>A
ENST00000635598.1:c.*468G>A	ENSP00000489207.1:n.*468G>A
ENST00000635631.1:n.540G>A
NM_002641.3:c.1199G>A , LRG_160t1:c.1199G>A	NP_002632.1:p.Arg400Gln
NM_020473.3:c.497G>A	NP_065206.3:p.Arg166Gln
NR_033835.1:n.941G>A
NR_033836.1:n.657G>A
XM_011545539.1:c.506G>A	XP_011543841.1:p.Arg169Gln
XM_011545539.2:c.506G>A	XP_011543841.1:p.Arg169Gln
NM_002641.4:c.1199G>A MANE Select	NP_002632.1:p.Arg400Gln